chr2:47637246:A>T Detail (hg19) (MSH2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr2:47,637,246-47,637,246 |
hg38 | chr2:47,410,107-47,410,107 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000251.2:c.380A>T | NP_000242.1:p.Asn127Ile |
NM_001258281.1:c.182A>T | NP_001245210.1:p.Asn61Ile | |
Ensemble | ENST00000233146.7:c.380A>T | ENST00000233146.7:p.Asn127Ile |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
<0.001 | Triple Negative Breast Neoplasms | Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch... | BeFree | 25134804 | Detail |
0.365 | Turcot syndrome (disorder) | Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trig... | BeFree | 18470917 | Detail |
0.144 | colorectal cancer | The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (... | BeFree | 22581703 | Detail |
0.320 | Colorectal cancer, hereditary nonpolyposis, type 1 | Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in ... | UNIPROT | 22581703 | Detail |
0.002 | Tumor Progression | We performed a case-control study to test the association between two polymorphi... | BeFree | 16252083 | Detail |
0.063 | colorectal carcinoma | The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (... | BeFree | 22581703 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Gly322Asp and Asn127Ser single nucleotide polymorphisms (SNPs) of hMSH2 mismatch repair gene and the... | DisGeNET | Detail |
Our data demonstrate that MSH2 N127S and G322D per se are not sufficient to trigger MMR deficiency. | DisGeNET | Detail |
The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is esp... | DisGeNET | Detail |
Mismatch repair analysis of inherited MSH2 and/or MSH6 variation pairs found in cancer patients. | DisGeNET | Detail |
We performed a case-control study to test the association between two polymorphisms in the hMSH2 gen... | DisGeNET | Detail |
The role of one of the most frequently reported MMR gene VUS, MSH2 c.380A>G (p.Asn127Ser), is esp... | DisGeNET | Detail |
Overlapped Transcript Coordinates
Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
---|
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs17217772 dbSNP
- Genome
- hg19
- Position
- chr2:47,637,246-47,637,246
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
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